Systematic name M9343
Brief description Down-regulated genes in hepatocellular carcinoma (HCC) subclass G5, defined by unsupervised clustering.
Full description or abstract Hepatocellular carcinomas (HCCs) are a heterogeneous group of tumors that differ in risk factors and genetic alterations. We further investigated transcriptome-genotype-phenotype correlations in HCC. Global transcriptome analyses were performed on 57 HCCs and 3 hepatocellular adenomas and validated by quantitative RT-PCR using 63 additional HCCs. We determined loss of heterozygosity, gene mutations, promoter methylation of CDH1 and CDKN2A, and HBV DNA copy number for each tumor. Unsupervised transcriptome analysis identified 6 robust subgroups of HCC (G1-G6) associated with clinical and genetic characteristics. G1 tumors were associated with low copy number of HBV and overexpression of genes expressed in fetal liver and controlled by parental imprinting. G2 included HCCs infected with a high copy number of HBV and mutations in PIK3CA and TP53. In these first groups, we detected specific activation of the AKT pathway. G3 tumors were typified by mutation of TP53 and overexpression of genes controlling the cell cycle. G4 was a heterogeneous subgroup of tumors including TCF1-mutated hepatocellular adenomas and carcinomas. G5 and G6 were strongly related to beta-catenin mutations that lead to Wnt pathway activation; in particular, G6 tumors were characterized by satellite nodules, higher activation of the Wnt pathway, and E-cadherin underexpression. CONCLUSION: These results have furthered our understanding of the genetic diversity of human HCC and have provided specific identifiers for classifying tumors. In addition, our classification has potential therapeutic implications because 50% of the tumors were related to WNT or AKT pathway activation, which potentially could be targeted by specific inhibiting therapies.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17187432   Authors: Boyault S,Rickman DS,Reyniès de A,Balabaud C,Rebouissou S,Jeannot E,Hérault A,Saric J,Belghiti J,Franco D,Bioulac-Sage P,Laurent-Puig P,Zucman-Rossi J
Exact source Table 4S: G5_DN
Related gene sets (show 15 additional gene sets from the source publication)

(show 23 gene sets from the same authors)
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Organism Homo sapiens
Contributed by Yujin Hoshida (Broad Institute)
Source platform HG-U133A
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Compendia expression profiles Human tissue compendium (Novartis)
NCI-60 cell lines (National Cancer Institute)
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Version history 3.0: First introduced

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